Population Genetics of DNA Polymorphisms

这笔赠款提供预期四年支持的第一个年头。约德博士和他的同事们将对出生在8个不同地理分区的400名犹他州摩门教徒样本进行基因研究。Jorde博士将从三个不同的基因组来源获得限制性片段长度多态性（RFLPs）：线粒体DNA (mtDNA)， Y染色体DNA和常染色体DNA。第一种是母系遗传，第二种是父系遗传，第三种是父母双方遗传。使用这三种类型的RFLPs，将测试关于多态性水平、组间遗传变异和遗传距离的假设。鉴于摩门教会保存的优秀文献，也可以将基于RFLPs的遗传亲缘关系与先前基于迁移矩阵、同姓（共享姓氏）和系谱数据获得的亲缘关系估计进行比较。这将允许几个进化论假说得到检验。例如，理论预测Y染色体DNA和mtDNA RFLPs应该是奠基者效应和漂移的特别敏感的指标。如果这是真的，那么使用这些系统计算的遗传距离应该相对大于基于常染色体DNA的较小的外围细分的遗传距离。这个项目很重要，因为它将有助于开发一种在人类学和其他类型的遗传研究中具有巨大潜力的技术。由于mtDNA和Y染色体DNA的遗传很简单——每一个都只从一个亲本遗传——而且由于这两种DNA似乎都突变得很快，它们都有可能提供很好的种群标记，可以用来追踪随着时间的推移群体的迁移和物理相互作用。通过对当代群体的研究，应该有可能重建他们的历史。由于这种公认的潜力，mtDNA已经被用于这一目的，但由于没有在受控情况下进行基础研究，结果存在争议。约德博士的项目应该能解决这个问题。这项研究的结果不仅对人类学家和历史学家有价值，而且对遗传学家和其他生物学家也有价值。

This grant provides the first of four expected years of support. Dr.Jorde and his colleagues will conduct genetic studies on a sample of 400 Utah Mormons born in 8 different geographic subdivisions. Dr. Jorde will obtain restriction fragment length polymorphisms (RFLPs) from three different genomic sources: mitochondrial DNA (mtDNA), Y chromosomal DNA and autosomal DNA. The first is inherited maternally, the second only through the paternal line the the third from both parents. Hypotheses will be tested regarding levels of polymorphism, between-group genetic variance andd genetic distances using these three types of RFLPs. Given the excellent documentation maintained by the Mormon church it will also be possible to compare genetic kinship based on RFLPs with previously obtained estimates of kinship based on migration matrices, isonoymy (shared last names) and pedigree data. This will allow several evolutionary hypotheses to be tested. Theory, for example, predicts that Y chromosomal DNA and mtDNA RFLPs should be especialy sensitive indicators of founder effects and drift. If this is true, then genetic distances calculated using these systems should be comparatively larger than those based on autosomal DNA for smaller outlying subdivisions. This project is important because it will help to develop a technique which is of great potential use in anthropological as well as other types of genetic study. Because the genetics of mtDNA and Y chromosomal DNA are simple - each inherited from only one parent - and because both kinds of DNA appear to mutate quickly, both potentially provide excellent population markers which can be used to trace the migration and physical interaction of groups over time. Through study of present day groups it should be possible to reconstruct their history. Because of this recognized potential, mtDNA has already been used for this purpose but the results are controversial since basic studies in controlled situations have not been conducted. Dr. Jorde's project should remedy this situation. The results of this research will be of value not only to anthropologists and historians but also to geneticists and other biologists.